ORPHA:217638
Lysosomal disease with restrictive cardiomyopathy
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lysosomal disease with restrictive cardiomyopathy | |
| fr | Maladie lysosomale avec cardiomyopathie restrictive | |
| de | Lysosomale Krankheit mit restriktiver Kardiomyopathie | |
| es | Enfermedad lisosomal con miocardiopatía restrictiva | |
| it | Malattia lisosomiale con cardiomiopatia restrittiva | |
| nl | Lysosomale ziekte met restrictieve cardiomyopathie | |
| pt | Doença lisossomal com miocardiopatia restritiva | |
| pl | Choroba lizosomalna z kardiomiopatią restrykcyjną | |
| cs | Lysozomální onemocnění s restriktivní kardiomyopatií | |
| uk | Лізосомна хвороба з рестриктивною кардіоміопатією | |
| zh | 溶酶体病伴限制型心肌病 | |
| tr | Restriktif kardiyomiyopatili lizozomal hastalık |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16341 | E | validated | |
| UMLS | C5680886 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:217635Familial restrictive cardiomyopathy
rare cardiac diseases; rare genetic diseases - ORPHA:506225Rare disorder potentially indicated for heart transplant
rare transplant-related disorders
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/217638
- This record as JSON: /data/d/217638.json